This baby girl who suffers from excruciating epileptic attacks caused by a rare gene mutation has been given a ray of hope after her parents, family and friends raised a record-breaking 728,090 GBP in a viral online fundraiser.
Little Valeria Schenkel was born in her hometown in the Swiss canton of Lucerne and everything appeared normal at first for proud parents Alexandra and Mario.
However, four days later she suddenly stopped breathing and countless seizures followed.
Video Credit: CEN/www.save-valeria.com
Even though doctors managed to keep little Valeria alive, she continued to suffer daily seizures and anticonvulsants did not help the tot.
A genetic test that showed that the girl has a rare gene mutation known as KCNT1 which was only discovered in 2014 and so far has just 100 known cases worldwide.
Father Mario said: “Doctors told us that Valeria will never laugh, talk or walk. She will only live for a few years and there is no known therapy.
“The gene mutation means that Valeria suffers painful epileptic seizures every day.
“It is like a constant firework display in her head because the cells do not communicate properly with each other. It is desperate!”
Mum Alexandra said: “As a parent you are totally helpless. We hug Valeria during her extremely painful attacks and are there for her. We cannot do any more.”
However, the desperate parents have not given up hope for their daughter and they came across Leonard Kaczmarek, professor of Pharmacology and Cellular and Molecular Physiology at Yale School of Medicine in the US.
According to reports, Kaczmarek has recently developed a promising gene therapy treatment with a team of neurogeneticists.
Professor Kaczmarek said: “If we start the therapy with Valeria soon, we can stop many or all effects of the gene defect.”
The procedure has reportedly been highly successfully on animals, but has not yet been tested on humans.
For Valeria’s parents and professor Kaczmarek, it is clear that Valeria will never lead a normal life or even reach adulthood without the therapy.
Professor Kaczmarek calls the treatment “a breakthrough in gene therapy” which could also cure other diseases.
He said: “We develop adapted DNA snippets that dock onto and cover the faulty gene.”
A major problem is the cost of the treatment, with parents needing to pay up a hefty 1.8 million CHF (1.4 million GBP).
Mario said: “The pharmaceutical industry is not interested in this, there is not enough money to be made in it. The gene mutation is considered too rare.
“Our health insurance company and the IV [Swiss disability insurance] palm it off as well as they do not finance the development costs of a new treatment.”
The family managed to find half the amount with the help of family and friends, and started a crowdfunding campaign to raise the other half.
It was a massive success as the online plea to help poor Valeria went viral in Switzerland. In just one weekend, the family have raised 936,842 CHF (728,090 GBP).
Dad Mario said: “The support is overwhelming. It is indescribable, we can hardly believe it.”
According to the online platform ‘GoFundMe’, it is a European record for a medical fundraiser and is globally the fastest growing campaign on the website.
Even though the parents have reached their goal and it is assured that Valeria will start her treatment, the GoFundMe campaign will remain open.
Mario said: “As it is not a standard treatment, the future costs and course of therapy are difficult to estimate at this time. The additional money will be used to cover future treatment costs.
“We strongly hope that Valeria will be able to thank you all personally one day.
“If it works for Valeria, the cost of the treatment could soon drop drastically.”
To donate to the online campaign, visit: https://www.gofundme.com/rette-valeria or https://www.save-valeria.com
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Story By: Koen Berghuis, Sub-Editor: Joseph Golder, Agency: Central European News